Kornimate/medical-research-clean huggingface dataset:
exome and genome analysis to elucidate genetic etiologies and population characteristics in the plain community

Conditions: Undiagnosed Disease

Summary: this study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the plain communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.

the long term goal of this proposal is to establish a translational medicine program for the old order amish and mennonite communities that is accessible to their members with decreasing cost and effective diagnostic strategies, and to leverage the genetic information obtained to better understand the genetic forces and risks driving the health of these populations. as a bridge to do so, next-generation sequencing technology will be used to identify genetic defects in old order amish families/individuals who have a clinical picture suggestive of a mendelian disorder but with unknown diagnosis. investigators plan to develop targeted analytical ngs panels optimized for general use in the clinical setting when dealing with plain communities patients and families, yielding better and more prompt clinical intervention and improvement of outcomes. the study also involves use of whole genome sequencing for a mutant allele discovery platform to identify novel genetic risks in this population not yet identified in patients, and to use this platform to describe genetic differences in old order amish communities across pennsylvania and ultimately across the country. with wgs will be used to analyze population genetics by comparing the distribution of genetic variants among the various amish communities and to compare these with their european ancestry variants available in 1000 genome project, to study the influence of founder-selection and genetic drift in these populations.

Eligibility criteria:
inclusion criteria: * any person of amish or mennonite descent exclusion criteria: * individuals who are not of amish or mennonite descent
restoration of permanent molars affected with (mih) using composite restorations or preformed metal crowns

Conditions: Molar Incisor Hypomineralization

Summary: the aim of this study is to compare the clinical outcome of using direct esthetic composite restorations in managing mih cases and the use of preformed metal crowns.

molar incisor hypomineralization can represent a serious and challenging clinical management problem. children with mih require higher levels of treatment needs and demonstrate considerable management problems. for most severely affected mih molars, direct esthetic restorative materials or preformed metal crowns will be the treatments to choose between. a number of aspects which could support decision-making, however, are not clearly demarcated. first and foremost, it is not clear if both treatments are similarly acceptable for patients and providers.

Eligibility criteria:
inclusion criteria: 1. children with mih in one fully erupted molar or more. 2. age ranging from 7-12 years. 3. cooperative children 4. good general health. exclusion criteria: 1. patients participating in other experiments. 2. patients with parents planning to move away within the following year. 3. patients with only mildly affected mih molars that do not require extensive restorative treatment. 4. mih-affected molars that have a very poor prognosis and require extraction. 5. first permanent molars that are affected with other developmental defects, such as hypoplasia, dental fluorosis or amelogenesis imperfecta. -

Keywords: mih
french prospective anterior cruciate ligament reconstruction cohort study (fast)

Conditions: Rupture of Anterior Cruciate Ligament; Osteoarthritis

Summary: in this study we will examine patients who have undergone anterior cruciate and/or posterior cruciate ligament and/or multi ligaments reconstruction to determine the rate of re-injury, contralateral tear and functional outcomes at least two years after surgery.

the purpose of this study is to identify the rate of re tear two year after ligament reconstruction of the knee. the second objective is to assess the osteoarthritis of the knee at 20 years follow-up.

Eligibility criteria:
inclusion criteria: * one ligament or multi-ligaments tear of the knee * surgery reconstruction with any technique exclusion criteria: * patient refusal

Keywords: anterior cruciate ligament, posterior cruciate ligament, medial collateral ligament, lateral collateral ligament
effect of low dose radiotherapy on brain amyloidosis in the treatment of alzheimer's disease

Conditions: Alzheimer Disease

Summary: alzheimer's disease (ad) is the most frequent neurodegenerative disease associated with dementia, with a constantly increasing prevalence associated with an aging population. amyloid deposition is considered the first molecular event occurring in ad: as already showed in an animal model, a low-dose radiotherapy (rt) course is capable of reducing ad-associated amyloid-β plaques and improve cognitive function. this pilot study wishes to investigate in 10 patients with a diagnosis of prodromal or early probable ad and with evidence of amyloid pathology the effectiveness of a short course low dose rt radiotherapy to reduce amyloid deposits in the human brain using molecular imaging (18f-florbetapir) to show the effectiveness of the treatment on the specific target.


Eligibility criteria:
inclusion criteria: * ability to understand the clinical trial and give an informed consent * clinical diagnosis of prodromal ad, or mild or moderate ad * ability to undergo neurocognitive assessment at baseline visit, alone or accompanied by a caregiver * amyloid pet scan positivity * ability to follow the 5-days rt regiment, alone or accompanied by a caregiver exclusion criteria: * inclusion in another disease modifying clinical trial * previous therapeutic brain irradiation * evidence of vascular cognitive impairment on magnetic resonance imaging (mri) (fazekas score \>1 and wahlund score \>=10/30) * oncologic disease (excluding skin cancer) active or in remission from less than 5 years * evidence of substance abuse (alcohol and/or other drugs) with a dependence during the previous 12 months (dsm-iv criteria) * presence of subdural hygroma's, subdural hematomas or hydrocephalus * significant psychiatric comorbidity as assessed during the clinical evaluation by the neurologist/geriatrician in charge * active or recent (within 3 months) cerebral infection/haemorrhage * immunocompromised status * prior history of seizure * dermatological skin disease of the scalp * women who are pregnant or breast feeding or who intend to become pregnant during the course of the study; * lack of safe contraception, defined as: female participants of childbearing potential, not using and not willing to continue using a medically reliable method of contraception for the entire study duration, such as oral, injectable, or implantable contraceptives, or intrauterine contraceptive devices, or who are not using any other method considered sufficiently reliable by the investigator in individual cases;

Keywords: alzheimer's disease amyloid radiotherapy
amplitude-modulated radiofrequency electromagnetic field treatment for advanced hepatocellular carcinoma (immune-rf)

Conditions: Hepatocellular Carcinoma (HCC)

Summary: combined double immune checkpoint inhibition and radiofrequency electromagnetic field treatment for patients with advanced hepatocellular carcinoma

charité university medicine berlin is currently the only german university hospital with an available capacitive radiofrequency electromagnetic field treatment device. while there is retrospective data available regarding the assumed effectiveness and low toxicity profile of radiofrequency electromagnetic field treatment for various solid tumors including liver cancer, there is no prospective data available on the combined effect of first-line palliative double immune checkpoint inhibition and radiofrequency electromagnetic field treatment for patients with advanced hepatocellular carcinoma. the investigators aim to conduct a feasibility trial and plan to compare the results with data of a prospective trial with a comparable patient population who received double immune checkpoint inhibition alone.

Eligibility criteria:
inclusion criteria: * treatment with combined anti-pd-l1 and anti-ctla-4 antibodies * written informed consent prior to any study procedure * 18 years or older * histologically confirmed hcc * hcc not amenable to curative (including resection or ablation) or locoregional (including tace) therapies * no prior systemic therapy for hcc * compensated liver function, as defined by a child-pugh score ≤ b7 * eastern cooperative oncology group (ecog) performance status ≤ 2 * measurable disease by response criteria in solid tumors (mrecist and recist v1.1) criteria * body weight of \> 30 kg * women of childbearing potential with negative pregnancy test and agreement for adequate birth control if conception is possible * if present hbv and hcv managed according to the local institutional practice exclusion criteria: * arterioembolic event including a stroke or myocardial infarction within 3 months prior to randomization severe / unstable angina, or symptomatic congestive heart failure as defined by nyha iii/iv * cardiac pacemakers / icd * large metal implants in the treatment area * current evidence of coagulopathy or bleeding diathesis * known fibrolamellar hcc, sarcomatoid hcc, or mixed cholangiocarcinoma and hcc * decompensated liver function as defined by child pugh ≥ b8 * patients on a liver transplantation list * patients with autoimmune disorders or history of organ transplantation who require immunosuppressive therapy * uncontrolled autoimmune or inflammatory disorders * patient not able for supine positioning (e.g. due to pain) * significantly altered mental status * pregnancy and breastfeeding
study of oral idebenone to treat non-alcoholic steatohepatitis

Conditions: Non Alcoholic Steatohepatitis

Summary: this is a randomized, placebo-controlled phase 1/2a study to investigate the safety and tolerability of idebenone in patients 18 years of age or older with non-alcoholic steatohepatitis, with stage 1-3 fibrosis. as secondary end point target engagement and fibrosis improvement will be assessed.

this is a prospective phase 1/2a, randomized, double-blinded, placebo-controlled, single center study of safety and efficacy of oral idebenone in adults 18 years of age or older with non-alcoholic steatohepatitis (nash). following irb approval and written informed consent, 45 participants will be enrolled in the study and randomized in a 1:2 ratio on redcap data capturing software. participants will be randomized to two groups and receive the following tablets: placebo, idebenone at escalating doses of 200mg by mouth (p.o.) once a day for 2 weeks, then 200 mg twice a day for 2 weeks, then 3 times per day for the remainder of the study (up to 48 weeks). monitoring and safety evaluation will continue for 12 weeks after the final dose. the study will investigate the safety and tolerability as primary end point and assess target engagement and fibrosis improvement as secondary end points.

Eligibility criteria:
inclusion criteria: * 1) male or non-pregnant/ non-lactating women ≥ 18 years of age * 2) diagnosis of nash: nafld activity score (nas) of 4 or greater with a score of 1 for each of the following (steatosis scored 0-3, lobular inflammation scored 0-3, ballooning scored 0-2): * steatosis * lobular inflammation * hepatocyte ballooning 3) fibrosis (ishak fibrosis score ≥1 on liver biopsy) within 6 months of enrollment with meld\<10, or based on mre exclusion criteria: * presence of any other form of liver disease, including viral hepatitis, autoimmune hepatitis, alcoholic liver disease, genetic causes of chronic liver disease): * subjects with other etiologies of chronic liver disease, such as chronic hepatitis b and c; autoimmune hepatitis; and inherited liver disease. * alt\>300 u/l * total serum bilirubin ≥ to 1.3 mg/dl (gilbert's syndrome patients excepted) * international normalized ratio (inr) ≥ 1.3 * meld\>10 * serum creatinine \>2.0mg/dl * known alcohol abuse or alcohol use disorder: * \>20 g/day for women * \>30 g/day for men * active substance abuse * any medical condition that prevents mre, mr-pdff * platelet count ≤100//mm3 * decompensated cirrhosis * hemoglobin \<11 g/dl in females or \<12 g/dl in males * presence/history of hcc * history of liver transplantation * history of bariatric surgery * history of inflammatory bowel disease * history of cardiovascular disease, long qt syndrome. * subjects who have participated in investigational drug trials and took any investigational drugs within 60 days prior to the first dose of idebenone. history of receiving other investigations drug within 30 days prior to enrollment * any concerns regarding compliance by enrolling physician
follow-up of adult phenylketonuria (pku) patients

Conditions: Nutritional Deficiencies; Phenylketonuria

Summary: adult patients with phenylketonuria (pku) at the age around 40 years belong to the first patients generation with early treatment of the disease. pku is caused by an inborn error of the amino acid metabolism and the so far best suitable therapy is an early and strict diet, which is low in phenylalanine. besides an early and continuously treatment in childhood, the nutritional and medical support during adolescence and adulthood have been suggested to influence the long-term physical health of adult pku patients. as many adult pku patients tend to neglect the necessarily strict diet, they do not get a balanced diet. for pku patients some nutrients, which may be rare in an unbalanced diet, might help to improve health status, physical and neurological performance and quality of life. information about the longitudinal development of the patients status and the influence of the type of their medical care is not available. in this 5 year follow-up the investigators aim to study the quality of life and the medical, nutritional and psychological status of adult pku patients, in whom corresponding information has already been collected previously.


Eligibility criteria:
inclusion criteria: * assured clinical diagnose of pku or proof of mutation in the phenylalanine hydroxylase gene (for pku patients only) * both groups need to hand in a signed consent to participate in the study * controls: have to be omnivores and should not be on drugs, which influence the lipid metabolism, during the last 3 months * attendance of the last study trial exclusion criteria: * not fulfill the inclusion criteria

Keywords: pku phenylketonuria adult patient development nutritional deficiencies neurological outcome psychological and neurological development comparison with healthy adults longitudinal development quality of life
intracavernous injection of botox 100 u for treatment of pde5is inconvenient patients with ed

Conditions: Erectile Dysfunction

Summary: there is a new emerging concept that botulinum toxin type a may have a potential role in treatment of erectile dysfunction with a longer duration of action. so, the investigators opted to perform this study to compare ici of botulinum toxin type a versus trimix for treatment of ed.

background: direct intracavernosal injections of vasoactive agents to treat erectile dysfunction were first described in 1982 using papaverine. later on many agents have been introduced for ici. one of most newly introduced ici agents for treatment of ed is botulinum toxin type a. purpose: the aim of this study will to compare the safety, efficacy, tolerability and adverse events s of ici of btx-a 100 unit in comparison with ici trimix in the treatment of erectile dysfunction for pde5is non-responders. design, settings, and participants: this study will be conducted on 124 patients at minimum, complain of erectile dysfunction not responding to different pde5is therapy presenting to urology department and outpatient clinic at banha university hospital. patients will be randomized into 2 equal groups: the treatment group a: will receive a single ici of btx-a 100 units . the treatment group b: will receive on-demand ici of trimix . assessment for all groups will be done by sexual health inventory for men (shim), sexual encounter profile questions 2 and 3 (sep 2 \& sep 3), and the global assessment question (gaq) based on pre-treatment, 2 weeks, 3 months and every 3 months after treatment.

Eligibility criteria:
inclusion criteria: * age more than 40 years with ed not responding to pde5is, non compliant or contraindicated to pde5is. a "no" response on sexual encounter profile questions (sep 2 \& 3) exclusion criteria: * psychiatric condition any presence of penile anatomical abnormalities (e.g. penile fibrosis) that would significantly impair erectile function.

Keywords: botulimium toxin eractile dysfunction ici
the effects of diesel exhaust inhalation on exercise capacity in patients with stable angina pectoris

Conditions: Coronary Heart Disease; Angina Pectoris

Summary: the purpose of this study is to determine whether exposure to diesel exhaust (air pollution) has a functional impact on patients with stable angina pectoris.

air pollution is a major cause of cardiovascular morbidity and mortality. the mechanism and components of air pollution responsible for these cardiovascular effects are unknown but small combustion-derived particles are suspected to be the major cause. using a unique exposure system in umeå sweden, we have demonstrated that healthy volunteers who inhale dilute diesel exhaust develop an impairment of two important, highly relevant and complementary aspects of vascular function: the regulation of vascular tone and endogenous fibrinolysis. we have recently extended these findings and have shown that brief exposure to dilute diesel exhaust promotes myocardial ischemia and inhibits endogenous fibrinolytic capacity in patients with stable asymptomatic coronary heart disease. we now wish to extend these findings to patients with chronic stable angina pectoris. in particular, we wish to determine the functional impact of diesel exhaust inhalation as well as describe the time course and minimum exposure that can induce these detrimental effects.

Eligibility criteria:
inclusion criteria: * documented coronary heart disease * symptoms of stable angina pectoris exclusion criteria: * history of arrhythmia * severe 3 vessel coronary artery disease or left main stem stenosis that has not been revascularised * resting conduction abnormality * digoxin therapy * uncontrolled hypertension * renal or hepatic failure * patients with unstable disease (acs or unstable symptoms within 3 months) * asthma * intercurrent illness

Keywords: angina pectoris air pollution diesel exhaust myocardial ischaemia exercise capacity
temperature rise caused by short or long-wavelengths

Conditions: Post-operative Pain

Summary: red light has been shown to be less harmful than blue light in vitro and in vivo. although red light has been already introduced in the market and is currently being used in patients for several reasons, no data exist on the use of red light applied to restorative procedures. this study aims to specifically measure the in vivo temperature rise in simulated restorative procedures using blue light (standard) and red light and its post-operative sensitivity rates.

light-cured materials revolutionized dentistry as they allowed to control the setting of the materials in a timely manner simply upon light exposure. although blue light has been routinely used to cure dental restorative materials for over 50 years, there are still potential risks to dental patients. these risks include gingiva burn or recession and pulp inflammation that can lead to necrosis in more severe situations due to the heat generated by this short wavelength (blue light). in addition, blue light has direct deleterious effects on cells, including irreversible imbalance in reactive oxygen species (ros), damage to the mitochondrial dna, and promoting collagen degradation. on the other hand, long wavelengths (such as red light) are known to have opposite effects, reducing inflammation and increasing cell proliferation. although red light has been already introduced in the market and is currently being used in patients for several reasons, no in vivo data exist on the use of red-light applied to restorative procedures. thus, this study aims to specifically measure the in vivo temperature rise in the tooth and gingival tissues surrounding restorative procedures using blue light (standard of care) and red light (investigational device) and evaluate/compare its post-operative sensitivity rates. the research hypothesis is that red light will generate less heat and less post-operative sensitivity than blue light (standard of care) while being used in dental restorative procedures.

Eligibility criteria:
inclusion criteria: * asa i classification * fully erupted pre-molar(s); * absence of caries; * absence of restoration. exclusion criteria: * radiographic constriction of the pulp chamber; * absence of apical closure; * formation of pulp stones or diffuse calcification at the pulp chamber; * presence of active carious lesions; * diagnosed reversible or irreversible pulpitis; * existing periapical lesion; * existing or planned root canal treatment.
creation of a cohort for the quantitation and characterization of circulating viral rnas as a new biomarker of hepatitis b functional cure.

Conditions: Hepatitis B

Summary: the " cirb-rna " cohort aims to create a biological collection associated with clinical and biological data from patients with hepatitis b infection. this project is part of a much larger program that aims to characterize and quantify circulating viral rnas as a possible new biomarker of hepatitis b functional cure.


Eligibility criteria:
inclusion criteria: * adults patients and minor children over 6 years of age (in lyon) with acute or chronic hepatitis b or presenting with hbsag loss (with/without hbs seroconversion). (co-infected patients with hdv and/or hcv and/or hiv are eligible) * patients requiring blood sampling for medical care at the time of the medical appointment. * informed patients who do not refuse to participate. * persons not affiliated to a social security scheme and persons receiving medical assistance from the state may be asked to participate in the study exclusion criteria: * patients participating at the time of the inclusion to an interventional trial evaluating a drug likely to interfere with this study. * persons deprived of their liberty by a judicial or administrative decision * adults who are subject to a legal protection measure * children less than 6 years old (in lyon)
phase i study to investigate pharmacokinetics and safety of bay73-4506 in asian (japanese) patients with solid tumors.

Conditions: Tumors

Summary: this study is to define the pharmacokinetics and to evaluate the safety of bay73-4506, 160 mg once daily administered orally as a single agent in japanese patients with advanced solid tumors.


Eligibility criteria:
inclusion criteria: * male or female japanese patients \>/= 18 years * histologically or cytologically confirmed solid tumors * ecog-ps 0 - 1 * adequate bone marrow, liver and renal function exclusion criteria: * uncontrolled hypertension * patients with severe renal impairment or on dialysis * patients with seizure disorder requiring anticonvulsant medication * known or suspected allergy to the investigational agent.

Keywords: solid tumors